Kumar Surendra, Siddaraju Neelaiah, Singh Neha, Basu Debdatta, Srinivasan Renuka
Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
Diagn Cytopathol. 2009 Oct;37(10):740-3. doi: 10.1002/dc.21118.
Embryonal rhabdomyosarcoma (ERMS) is one of the commonest childhood tumors that usually presents as a small round cell tumor (SRCT). We report a case of an ERMS expressing frequent and prominent intranuclear cytoplasmic inclusions (INCIs). Our patient was a 3-year-old female child who presented with proptosis of the left eye with left sided cervical lymphadenopathy. Fine-needle aspiration (FNA) smears from both the orbital lesion and the cervical lymph nodes were cellular with features of a small round cell tumor (SRCT). The most striking cytologic feature observed was the presence of frequent and highly prominent INCIs. Despite the diagnostic dilemma caused by this unusual finding, a differential diagnosis of peripheral neurectodermal tumor (PNET) /Ewing's sarcoma, neuroblastoma, and ERMS was considered. Immunocytochemistry (ICC), using an appropriate panel of markers showed it to be a case of ERMS. Interestingly, though, not as frequent as on cytologic smears; INCIs could be appreciated even on biopsy material. INCIs in an ERMS are highly unusual and, to our knowledge, have not been documented so far. As a result of lack of any such cases in the literature, at present, the significance of this unique finding is not clear, and therefore needs to be investigated, as and when such cases are encountered in the future.
胚胎性横纹肌肉瘤(ERMS)是最常见的儿童肿瘤之一,通常表现为小圆细胞肿瘤(SRCT)。我们报告一例ERMS病例,其细胞核内胞质包涵体(INCIs)频繁且显著。我们的患者是一名3岁女童,表现为左眼突出伴左侧颈部淋巴结肿大。眼眶病变和颈部淋巴结的细针穿刺(FNA)涂片细胞丰富,具有小圆细胞肿瘤(SRCT)的特征。观察到的最显著细胞学特征是频繁且高度突出的INCIs。尽管这一不寻常发现导致诊断困难,但仍考虑了外周神经外胚层肿瘤(PNET)/尤因肉瘤、神经母细胞瘤和ERMS的鉴别诊断。使用一组合适的标志物进行免疫细胞化学(ICC)检测显示这是一例ERMS。有趣的是,尽管不如在细胞学涂片上那么频繁,但在活检材料上也能看到INCIs。ERMS中的INCIs非常罕见,据我们所知,迄今为止尚未见相关报道。由于文献中缺乏此类病例,目前这一独特发现的意义尚不清楚,因此,未来遇到此类病例时需要进行研究。